| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61847151C>A | CA400483021 | BRIP1 | c.577G>T (p.Val193Leu) c.70G>T (p.Val24Leu) n.2318G>T c.*65G>T (n.*65G>T) c.94G>T (p.Val32Leu) | dbSNP |
| 17 | g.61847151C= | CA2269198532 | BRIP1 | c.577G= (p.Val193=) c.70G= (p.Val24=) n.2318G= c.*65G= (n.*65G=) c.94G= (p.Val32=) | |
| 17 | g.61847151C>G | CA400483024 | BRIP1 | c.577G>C (p.Val193Leu) c.70G>C (p.Val24Leu) n.2318G>C c.*65G>C (n.*65G>C) c.94G>C (p.Val32Leu) | dbSNP |
| 17 | g.61847151C>T | CA157722 | BRIP1 | c.577G>A (p.Val193Ile) c.70G>A (p.Val24Ile) n.2318G>A c.*65G>A (n.*65G>A) c.94G>A (p.Val32Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847151_61847152delinsCA | CA2269198533 | BRIP1 | c.576_577delinsTG (p.Thr192=) c.69_70delinsTG (p.Thr23=) n.2317_2318delinsTG c.*64_*65delinsTG (n.*64_*65delinsTG) c.93_94delinsTG (p.Thr31=) | |
| 17 | g.61847152del | CA10580869 | BRIP1 | c.576del (p.Val193Ter) c.69del (p.Val24Ter) n.2317del c.*64del (n.*64del) c.93del (p.Val32Ter) | ClinVar dbSNP |
| 17 | g.61847152A= | CA2269198534 | BRIP1 | c.576T= (p.Thr192=) c.69T= (p.Thr23=) n.2317T= c.*64T= (n.*64T=) c.93T= (p.Thr31=) | |
| 17 | g.61847152A>C | CA501150632 | BRIP1 | c.576T>G (p.Thr192=) c.69T>G (p.Thr23=) n.2317T>G c.*64T>G (n.*64T>G) c.93T>G (p.Thr31=) | |
| 17 | g.61847152A>G | CA8690906 | BRIP1 | c.576T>C (p.Thr192=) c.69T>C (p.Thr23=) n.2317T>C c.*64T>C (n.*64T>C) c.93T>C (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847152A>T | CA501150633 | BRIP1 | c.576T>A (p.Thr192=) c.69T>A (p.Thr23=) n.2317T>A c.*64T>A (n.*64T>A) c.93T>A (p.Thr31=) | dbSNP |
| 17 | g.61847152dup | CA1139665803 | BRIP1 | c.576dup (p.Val193CysfsTer20) c.69dup (p.Val24CysfsTer24) c.576dup (p.Val193CysfsTer24) n.2317dup c.*64dup (n.*64dup) c.93dup (p.Val32CysfsTer24) | ClinVar dbSNP |
| 17 | g.61847153G>A | CA400483032 | BRIP1 | c.575C>T (p.Thr192Ile) c.68C>T (p.Thr23Ile) n.2316C>T c.*63C>T (n.*63C>T) c.92C>T (p.Thr31Ile) | dbSNP gnomAD v2 |
| 17 | g.61847153G>C | CA400483037 | BRIP1 | c.575C>G (p.Thr192Ser) c.68C>G (p.Thr23Ser) n.2316C>G c.*63C>G (n.*63C>G) c.92C>G (p.Thr31Ser) | ClinVar |
| 17 | g.61847153G= | CA2269198535 | BRIP1 | c.575C= (p.Thr192=) c.68C= (p.Thr23=) n.2316C= c.*63C= (n.*63C=) c.92C= (p.Thr31=) | |
| 17 | g.61847153G>T | CA400483034 | BRIP1 | c.575C>A (p.Thr192Asn) c.68C>A (p.Thr23Asn) n.2316C>A c.*63C>A (n.*63C>A) c.92C>A (p.Thr31Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847154T>A | CA400483040 | BRIP1 | c.574A>T (p.Thr192Ser) c.67A>T (p.Thr23Ser) n.2315A>T c.*62A>T (n.*62A>T) c.91A>T (p.Thr31Ser) | dbSNP |
| 17 | g.61847154T>C | CA400483042 | BRIP1 | c.574A>G (p.Thr192Ala) c.67A>G (p.Thr23Ala) n.2315A>G c.*62A>G (n.*62A>G) c.91A>G (p.Thr31Ala) | |
| 17 | g.61847154T>G | CA400483044 | BRIP1 | c.574A>C (p.Thr192Pro) c.67A>C (p.Thr23Pro) n.2315A>C c.*62A>C (n.*62A>C) c.91A>C (p.Thr31Pro) | ClinVar dbSNP |
| 17 | g.61847154T= | CA2269198536 | BRIP1 | c.574A= (p.Thr192=) c.67A= (p.Thr23=) n.2315A= c.*62A= (n.*62A=) c.91A= (p.Thr31=) | |
| 17 | g.61847155C>A | CA400483047 | BRIP1 | c.573G>T (p.Lys191Asn) c.66G>T (p.Lys22Asn) n.2314G>T c.*61G>T (n.*61G>T) c.90G>T (p.Lys30Asn) | ClinVar dbSNP |
| 17 | g.61847155C= | CA2269198537 | BRIP1 | c.573G= (p.Lys191=) c.66G= (p.Lys22=) n.2314G= c.*61G= (n.*61G=) c.90G= (p.Lys30=) | |
| 17 | g.61847155C>G | CA400483049 | BRIP1 | c.573G>C (p.Lys191Asn) c.66G>C (p.Lys22Asn) n.2314G>C c.*61G>C (n.*61G>C) c.90G>C (p.Lys30Asn) | dbSNP |
| 17 | g.61847155C>T | CA501150634 | BRIP1 | c.573G>A (p.Lys191=) c.66G>A (p.Lys22=) n.2314G>A c.*61G>A (n.*61G>A) c.90G>A (p.Lys30=) | dbSNP |
| 17 | g.61847156T>A | CA400483051 | BRIP1 | c.572A>T (p.Lys191Met) c.65A>T (p.Lys22Met) n.2313A>T c.*60A>T (n.*60A>T) c.89A>T (p.Lys30Met) | |
| 17 | g.61847156T>C | CA8690907 | BRIP1 | c.572A>G (p.Lys191Arg) c.65A>G (p.Lys22Arg) n.2313A>G c.*60A>G (n.*60A>G) c.89A>G (p.Lys30Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.61847156T>G | CA400483054 | BRIP1 | c.572A>C (p.Lys191Thr) c.65A>C (p.Lys22Thr) n.2313A>C c.*60A>C (n.*60A>C) c.89A>C (p.Lys30Thr) | |
| 17 | g.61847156T= | CA2269198538 | BRIP1 | c.572A= (p.Lys191=) c.65A= (p.Lys22=) n.2313A= c.*60A= (n.*60A=) c.89A= (p.Lys30=) | |
| 17 | g.61847157T>A | CA400483057 | BRIP1 | c.571A>T (p.Lys191Ter) c.64A>T (p.Lys22Ter) n.2312A>T c.*59A>T (n.*59A>T) c.88A>T (p.Lys30Ter) | |
| 17 | g.61847157T>C | CA400483060 | BRIP1 | c.571A>G (p.Lys191Glu) c.64A>G (p.Lys22Glu) n.2312A>G c.*59A>G (n.*59A>G) c.88A>G (p.Lys30Glu) | |
| 17 | g.61847157T>G | CA400483062 | BRIP1 | c.571A>C (p.Lys191Gln) c.64A>C (p.Lys22Gln) n.2312A>C c.*59A>C (n.*59A>C) c.88A>C (p.Lys30Gln) | |
| 17 | g.61847158T>A | CA501150638 | BRIP1 | c.570A>T (p.Gly190=) c.63A>T (p.Gly21=) n.2311A>T c.*58A>T (n.*58A>T) c.87A>T (p.Gly29=) | |
| 17 | g.61847158T>C | CA501150639 | BRIP1 | c.570A>G (p.Gly190=) c.63A>G (p.Gly21=) n.2311A>G c.*58A>G (n.*58A>G) c.87A>G (p.Gly29=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847158T>G | CA501150640 | BRIP1 | c.570A>C (p.Gly190=) c.63A>C (p.Gly21=) n.2311A>C c.*58A>C (n.*58A>C) c.87A>C (p.Gly29=) | |
| 17 | g.61847158T= | CA2269198539 | BRIP1 | c.570A= (p.Gly190=) c.63A= (p.Gly21=) n.2311A= c.*58A= (n.*58A=) c.87A= (p.Gly29=) | |
| 17 | g.61847159C>A | CA400483066 | BRIP1 | c.569G>T (p.Gly190Val) c.62G>T (p.Gly21Val) n.2310G>T c.*57G>T (n.*57G>T) c.86G>T (p.Gly29Val) | |
| 17 | g.61847159C= | CA2269198540 | BRIP1 | c.569G= (p.Gly190=) c.62G= (p.Gly21=) n.2310G= c.*57G= (n.*57G=) c.86G= (p.Gly29=) | |
| 17 | g.61847159C>G | CA400483069 | BRIP1 | c.569G>C (p.Gly190Ala) c.62G>C (p.Gly21Ala) n.2310G>C c.*57G>C (n.*57G>C) c.86G>C (p.Gly29Ala) | dbSNP |
| 17 | g.61847159C>T | CA8690908 | BRIP1 | c.569G>A (p.Gly190Glu) c.62G>A (p.Gly21Glu) n.2310G>A c.*57G>A (n.*57G>A) c.86G>A (p.Gly29Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847160C>A | CA400483074 | BRIP1 | c.568G>T (p.Gly190Ter) c.61G>T (p.Gly21Ter) n.2309G>T c.*56G>T (n.*56G>T) c.85G>T (p.Gly29Ter) | dbSNP |
| 17 | g.61847160C>G | CA400483072 | BRIP1 | c.568G>C (p.Gly190Arg) c.61G>C (p.Gly21Arg) n.2309G>C c.*56G>C (n.*56G>C) c.85G>C (p.Gly29Arg) | ClinVar dbSNP |
| 17 | g.61847160C>T | CA400483076 | BRIP1 | c.568G>A (p.Gly190Arg) c.61G>A (p.Gly21Arg) n.2309G>A c.*56G>A (n.*56G>A) c.85G>A (p.Gly29Arg) | dbSNP |
| 17 | g.61847161T>A | CA501150641 | BRIP1 | c.567A>T (p.Ser189=) c.60A>T (p.Ser20=) n.2308A>T c.*55A>T (n.*55A>T) c.84A>T (p.Ser28=) | dbSNP |
| 17 | g.61847161T>C | CA501150642 | BRIP1 | c.567A>G (p.Ser189=) c.60A>G (p.Ser20=) n.2308A>G c.*55A>G (n.*55A>G) c.84A>G (p.Ser28=) | dbSNP |
| 17 | g.61847161T>G | CA501150643 | BRIP1 | c.567A>C (p.Ser189=) c.60A>C (p.Ser20=) n.2308A>C c.*55A>C (n.*55A>C) c.84A>C (p.Ser28=) | |
| 17 | g.61847162G>A | CA400483079 | BRIP1 | c.566C>T (p.Ser189Leu) c.59C>T (p.Ser20Leu) n.2307C>T c.*54C>T (n.*54C>T) c.83C>T (p.Ser28Leu) | ClinVar dbSNP |
| 17 | g.61847162G>C | CA400483082 | BRIP1 | c.566C>G (p.Ser189Ter) c.59C>G (p.Ser20Ter) n.2307C>G c.*54C>G (n.*54C>G) c.83C>G (p.Ser28Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847162G= | CA2269198541 | BRIP1 | c.566C= (p.Ser189=) c.59C= (p.Ser20=) n.2307C= c.*54C= (n.*54C=) c.83C= (p.Ser28=) | |
| 17 | g.61847162G>T | CA400483081 | BRIP1 | c.566C>A (p.Ser189Ter) c.59C>A (p.Ser20Ter) n.2307C>A c.*54C>A (n.*54C>A) c.83C>A (p.Ser28Ter) | |
| 17 | g.61847163A>C | CA400483084 | BRIP1 | c.565T>G (p.Ser189Ala) c.58T>G (p.Ser20Ala) n.2306T>G c.*53T>G (n.*53T>G) c.82T>G (p.Ser28Ala) | |
| 17 | g.61847163A>G | CA400483088 | BRIP1 | c.565T>C (p.Ser189Pro) c.58T>C (p.Ser20Pro) n.2306T>C c.*53T>C (n.*53T>C) c.82T>C (p.Ser28Pro) |